chylomicron retention disease

Term ID

DOID:0060357

Synonyms

• Anderson disease
• CMRD

Definition

A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (5)

References

• GARD:9683
• ICD10CM:E78.3
• MESH:C535460
• OMIM:246700
• ORDO:71
• SNOMEDCT_US_2023_03_01:702364003
• UMLS_CUI:C0795956

Ontology

Human Disease   ( DOID:0060357 )